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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
ATP2B1 - ATPase Plasma Membrane Ca2+ Transporting 1
Alias:
MRD66
PMCA1
PMCA1kb
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于P型初级离子转运ATP酶家族,在反应循环中,会形成天冬氨酸磷酸中间物。这些酶在真核细胞中克服非常大的浓度梯度去除二价钙离子,并在细胞内钙稳态中起到关键作用。哺乳动物的质膜钙ATP酶同种型由至少四个独立基因编码,这些酶的多样性通过转录本的替代剪接进一步增加。不同同种型和剪接变体的表达受发育、组织和细胞类型特异性的调控,表明这些泵功能上适应特定细胞和组织的生理需求。这个基因编码质膜钙ATP酶同种型1。已经发现了编码不同同种型的替代剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:490
ENSEMBL:ENSG00000070961
HGNC:814
UNIPROT:P20020
OMIM:108731
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
490
42
21
121318 bp
134.69
76
2
11
25
ATP2B1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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